Aliases & Classifications for Mass Syndrome

MalaCards integrated aliases for Mass Syndrome:

Name: Mass Syndrome 57 76 53 75 29 13 6 40
Overlap Connective Tissue Disease 57 53 75 73
Mass Phenotype 57 53 37 55
Octd 57 53 75
Overlap Connective Tissue Disease; Octd 57

Characteristics:

HPO:

32
mass syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 604308
MedGen 42 C1858556
KEGG 37 H00661
UMLS 73 C1858556

Summaries for Mass Syndrome

NIH Rare Diseases : 53 MASS (mitral valve prolapse, aortic enlargement, skin and skeletal findings) syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissueis the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individual’s symptoms.

MalaCards based summary : Mass Syndrome, also known as overlap connective tissue disease, is related to acromicric dysplasia and geleophysic dysplasia. An important gene associated with Mass Syndrome is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Signaling by Wnt and Wnt Signaling Pathway and Pluripotency. Affiliated tissues include skin and bone, and related phenotypes are abnormality of the sternum and striae distensae

UniProtKB/Swiss-Prot : 75 Overlap connective tissue disease: Heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable.

Wikipedia : 76 MASS syndrome is a medical disorder of the connective tissue similar to Marfan syndrome. MASS stands... more...

Description from OMIM: 604308

Related Diseases for Mass Syndrome

Graphical network of the top 20 diseases related to Mass Syndrome:



Diseases related to Mass Syndrome

Symptoms & Phenotypes for Mass Syndrome

Clinical features from OMIM:

604308

Human phenotypes related to Mass Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the sternum 32 HP:0000766
2 striae distensae 32 HP:0001065
3 disproportionate tall stature 32 HP:0001519
4 mitral valve prolapse 32 HP:0001634
5 aortic aneurysm 32 HP:0004942

MGI Mouse Phenotypes related to Mass Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.26 FBN1 LEP LRP5 SOST
2 pigmentation MP:0001186 8.8 FBN1 LEP LRP5

Drugs & Therapeutics for Mass Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Impact of Preterm Body Composition at Discharge on 2 Years Neurological Development (ASQ Evaluation) Unknown status NCT01450436
2 Clinical Assessment of Patients With High Bone Mass Due to Mutation in Lrp5 Completed NCT01199094

Search NIH Clinical Center for Mass Syndrome

Genetic Tests for Mass Syndrome

Genetic tests related to Mass Syndrome:

# Genetic test Affiliating Genes
1 Mass Syndrome 29 FBN1

Anatomical Context for Mass Syndrome

MalaCards organs/tissues related to Mass Syndrome:

41
Skin, Bone

Publications for Mass Syndrome

Articles related to Mass Syndrome:

# Title Authors Year
1
Anesthetic evaluation and perioperative management in a patient with new onset mediastinal mass syndrome presenting for emergency surgery. ( 22606395 )
2011
2
Mediastinal mass syndrome. ( 15829000 )
2005
3
AAEM case report 33: costoclavicular mass syndrome. American Association of Electrodiagnostic Medicine. ( 10086905 )
1999
4
New-onset headache in an adolescent with MASS syndrome. ( 10522336 )
1999
5
Iliac fossa mass syndrome in hemophilia. ( 5467217 )
1970

Variations for Mass Syndrome

ClinVar genetic disease variations for Mass Syndrome:

6
(show top 50) (show all 260)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.5134_5137dup (p.Asn1713Ilefs) duplication Pathogenic rs1131692049 GRCh38 Chromosome 15, 48463169: 48463172
2 FBN1 NM_000138.4(FBN1): c.5134_5137dup (p.Asn1713Ilefs) duplication Pathogenic rs1131692049 GRCh37 Chromosome 15, 48755366: 48755369
3 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh37 Chromosome 15, 48829826: 48829826
4 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh38 Chromosome 15, 48537629: 48537629
5 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic rs111401431 GRCh37 Chromosome 15, 48760294: 48760294
6 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic rs111401431 GRCh38 Chromosome 15, 48468097: 48468097
7 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh37 Chromosome 15, 48758017: 48758017
8 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh38 Chromosome 15, 48465820: 48465820
9 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Pathogenic/Likely pathogenic rs193922228 GRCh37 Chromosome 15, 48722933: 48722933
10 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Pathogenic/Likely pathogenic rs193922228 GRCh38 Chromosome 15, 48430736: 48430736
11 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic rs397515757 GRCh37 Chromosome 15, 48807579: 48807579
12 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic rs397515757 GRCh38 Chromosome 15, 48515382: 48515382
13 FBN1 NM_000138.4(FBN1): c.4313G> A (p.Ser1438Asn) single nucleotide variant Uncertain significance rs587782945 GRCh38 Chromosome 15, 48472574: 48472574
14 FBN1 NM_000138.4(FBN1): c.4313G> A (p.Ser1438Asn) single nucleotide variant Uncertain significance rs587782945 GRCh37 Chromosome 15, 48764771: 48764771
15 FBN1 NM_000138.4(FBN1): c.1027G> A (p.Gly343Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146726731 GRCh37 Chromosome 15, 48812976: 48812976
16 FBN1 NM_000138.4(FBN1): c.1027G> A (p.Gly343Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146726731 GRCh38 Chromosome 15, 48520779: 48520779
17 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
18 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh38 Chromosome 15, 48420752: 48420752
19 FBN1 NM_000138.4(FBN1): c.5066-14dupT duplication Benign rs3833018 GRCh38 Chromosome 15, 48463254: 48463254
20 FBN1 NM_000138.4(FBN1): c.5066-14dupT duplication Benign rs3833018 GRCh37 Chromosome 15, 48755451: 48755451
21 FBN1 NM_000138.4(FBN1): c.79G> A (p.Ala27Thr) single nucleotide variant Benign/Likely benign rs25397 GRCh37 Chromosome 15, 48936888: 48936888
22 FBN1 NM_000138.4(FBN1): c.79G> A (p.Ala27Thr) single nucleotide variant Benign/Likely benign rs25397 GRCh38 Chromosome 15, 48644691: 48644691
23 FBN1 NM_000138.4(FBN1): c.8185A> C (p.Lys2729Gln) single nucleotide variant Likely benign rs370096856 GRCh38 Chromosome 15, 48412610: 48412610
24 FBN1 NM_000138.4(FBN1): c.8185A> C (p.Lys2729Gln) single nucleotide variant Likely benign rs370096856 GRCh37 Chromosome 15, 48704807: 48704807
25 FBN1 NM_000138.4(FBN1): c.7098C> T (p.Asp2366=) single nucleotide variant Benign/Likely benign rs1005074 GRCh38 Chromosome 15, 48427673: 48427673
26 FBN1 NM_000138.4(FBN1): c.7098C> T (p.Asp2366=) single nucleotide variant Benign/Likely benign rs1005074 GRCh37 Chromosome 15, 48719870: 48719870
27 FBN1 NM_000138.4(FBN1): c.5917+3A> G single nucleotide variant Benign/Likely benign rs202158568 GRCh37 Chromosome 15, 48737570: 48737570
28 FBN1 NM_000138.4(FBN1): c.5917+3A> G single nucleotide variant Benign/Likely benign rs202158568 GRCh38 Chromosome 15, 48445373: 48445373
29 FBN1 NM_000138.4(FBN1): c.3890A> G (p.Glu1297Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200342067 GRCh37 Chromosome 15, 48773926: 48773926
30 FBN1 NM_000138.4(FBN1): c.3890A> G (p.Glu1297Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200342067 GRCh38 Chromosome 15, 48481729: 48481729
31 FBN1 NM_000138.4(FBN1): c.2678-12T> C single nucleotide variant Benign/Likely benign rs200368037 GRCh38 Chromosome 15, 48494266: 48494266
32 FBN1 NM_000138.4(FBN1): c.2678-12T> C single nucleotide variant Benign/Likely benign rs200368037 GRCh37 Chromosome 15, 48786463: 48786463
33 FBN1 NM_000138.4(FBN1): c.902G> T (p.Gly301Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142888621 GRCh38 Chromosome 15, 48526216: 48526216
34 FBN1 NM_000138.4(FBN1): c.902G> T (p.Gly301Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142888621 GRCh37 Chromosome 15, 48818413: 48818413
35 FBN1 NM_000138.4(FBN1): c.6314-15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200841830 GRCh37 Chromosome 15, 48729599: 48729599
36 FBN1 NM_000138.4(FBN1): c.6314-15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200841830 GRCh38 Chromosome 15, 48437402: 48437402
37 FBN1 NM_000138.4(FBN1): c.8149G> A (p.Glu2717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187553035 GRCh37 Chromosome 15, 48704843: 48704843
38 FBN1 NM_000138.4(FBN1): c.8149G> A (p.Glu2717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187553035 GRCh38 Chromosome 15, 48412646: 48412646
39 FBN1 NM_000138.4(FBN1): c.3936C> T (p.Ser1312=) single nucleotide variant Likely benign rs779913610 GRCh37 Chromosome 15, 48773880: 48773880
40 FBN1 NM_000138.4(FBN1): c.3936C> T (p.Ser1312=) single nucleotide variant Likely benign rs779913610 GRCh38 Chromosome 15, 48481683: 48481683
41 FBN1 NM_000138.4(FBN1): c.783T> C (p.Asn261=) single nucleotide variant Benign/Likely benign rs113721547 GRCh37 Chromosome 15, 48826356: 48826356
42 FBN1 NM_000138.4(FBN1): c.783T> C (p.Asn261=) single nucleotide variant Benign/Likely benign rs113721547 GRCh38 Chromosome 15, 48534159: 48534159
43 FBN1 NM_000138.4(FBN1): c.8363C> T (p.Thr2788Met) single nucleotide variant Benign/Likely benign rs143007898 GRCh38 Chromosome 15, 48411243: 48411243
44 FBN1 NM_000138.4(FBN1): c.8363C> T (p.Thr2788Met) single nucleotide variant Benign/Likely benign rs143007898 GRCh37 Chromosome 15, 48703440: 48703440
45 FBN1 NM_000138.4(FBN1): c.7056C> T (p.Ser2352=) single nucleotide variant Conflicting interpretations of pathogenicity rs149697299 GRCh38 Chromosome 15, 48427715: 48427715
46 FBN1 NM_000138.4(FBN1): c.7056C> T (p.Ser2352=) single nucleotide variant Conflicting interpretations of pathogenicity rs149697299 GRCh37 Chromosome 15, 48719912: 48719912
47 FBN1 NM_000138.4(FBN1): c.3089A> G (p.Asn1030Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs375996640 GRCh37 Chromosome 15, 48780684: 48780684
48 FBN1 NM_000138.4(FBN1): c.3089A> G (p.Asn1030Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs375996640 GRCh38 Chromosome 15, 48488487: 48488487
49 FBN1 NM_000138.4(FBN1): c.*2638T> C single nucleotide variant Uncertain significance rs886051219 GRCh37 Chromosome 15, 48700549: 48700549
50 FBN1 NM_000138.4(FBN1): c.*2638T> C single nucleotide variant Uncertain significance rs886051219 GRCh38 Chromosome 15, 48408352: 48408352

Expression for Mass Syndrome

Search GEO for disease gene expression data for Mass Syndrome.

Pathways for Mass Syndrome

GO Terms for Mass Syndrome

Cellular components related to Mass Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 8.92 FBN1 LEP SOST WNT11

Biological processes related to Mass Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.67 LRP5 SOST WNT11
2 kidney development GO:0001822 9.48 FBN1 WNT11
3 cholesterol metabolic process GO:0008203 9.46 LEP LRP5
4 canonical Wnt signaling pathway GO:0060070 9.43 LRP5 WNT11
5 regulation of blood pressure GO:0008217 9.4 LEP LRP5
6 cellular response to retinoic acid GO:0071300 9.37 LEP WNT11
7 Wnt signaling pathway GO:0016055 9.33 LRP5 SOST WNT11
8 response to nutrient levels GO:0031667 9.32 LEP WNT11
9 adipose tissue development GO:0060612 9.26 LEP LRP5
10 negative regulation of cartilage development GO:0061037 8.96 LEP WNT11
11 regulation of bone remodeling GO:0046850 8.62 LEP LRP5

Molecular functions related to Mass Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 8.96 FBN1 SOST
2 hormone activity GO:0005179 8.62 FBN1 LEP

Sources for Mass Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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